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Fibrillin–2 (FBN2) mutations result in the Marfan–like disorder, congenital contractural arachnodactyly

✍ Scribed by Putnam, Elizabeth A.; Zhang, Hui; Ramirez, Francesco; Milewicz, Dianna M.

Book ID
109918897
Publisher
Nature Publishing Group
Year
1995
Tongue
English
Weight
381 KB
Volume
11
Category
Article
ISSN
1061-4036

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## Congenital contractural arachnodactyly (CCA) is an autosomal dominant condition phenotypically related to Marfan syndrome (MFS). CCA is caused by mutations in FBN2, whereas MFS results from mutations in FBN1. FBN2 mRNA extracted from 12 unrelated CCA patient cell strains was screened for mutati